Fiana Ní Ghrálaigh Profile picture
PhD student researching psychiatric genetics at Maynooth University and @AutismTCD

Sep 24, 2020, 5 tweets

We wrote a review on the potential of genome sequencing technologies in autism
@lornahoulihan @lgallagh_louise

authors.elsevier.com/a/1bnrL3A54zZV…

@AutismTCD @MaynoothBiology @scienceirel @MaynoothUni @tcddublin
#AutismGenomics #BelieveInScience

Let me tell you more (1/5)

WHY study the genetics of autism?

Studying genetics helps us to understand the biology of autism and brings us towards improved diagnosis and medical decision-making (2/5)

#ThinkGenetics #AutismGenomics

HOW can we identify genetic variants in ASD?

Sequencing of the whole genome and the whole exome is made possible by Next-Generation Sequencing technologies. These techniques allow us to look at many types of genetic variation across the genome. (3/5)

#NGS #Genomics

WHAT impact are these genetic variants having?

Genetic variants associated with autism can have an impact on the genome by disrupting the function of a gene, through the number of copies of a gene and/or by affecting how a gene is regulated. (4/5)

#CNV #Regulation

WHO can help us learn more about the genetics of autism?

Families! By studying families, we can look at how genetic variants are transmitted. Large cohorts have been collected for this reason and have led to important genetic findings. (5/5)

#Family #AutismGenomics

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